Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormality of renin-angiotensin system (HP:0000847)help
..Starting node
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Abnormal circulating renin (HP:0040084)help
Term ID: 40084
Name: Abnormal circulating renin
Synonym: Abnormal circulating renin; Abnormal plasma renin
Definition: A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.
Comments:
Reference: HP:0040084
Genes and Diseases:
 
       Child Nodes:
........expandIncreased circulating renin level (HP:0000848) help
........expandDecreased circulating renin level (HP:0003351) help

 Sister Nodes: 
..expandAbnormal circulating aldosterone (HP:0040085) help
..expandHyperactive renin-angiotensin system (HP:0000841) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040084HP:0040084Abnormal circulating renin0AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis67
HP:0040084HP:0040084Abnormal circulating renin0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0040084HP:0040084Abnormal circulating renin0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0040084HP:0040084Abnormal circulating renin0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040280 - Obligate51
HP:0040084HP:0040084Abnormal circulating renin0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0040084HP:0040084Abnormal circulating renin0CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type IIHP:0040281 - Very frequent44
HP:0040084HP:0040084Abnormal circulating renin0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0040084HP:0040084Abnormal circulating renin0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 327
HP:0040084HP:0040084Abnormal circulating renin0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0040084HP:0040084Abnormal circulating renin0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0040084HP:0040084Abnormal circulating renin0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0040084HP:0040084Abnormal circulating renin0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0040084HP:0040084Abnormal circulating renin0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0040084HP:0040084Abnormal circulating renin0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type IHP:0040281 - Very frequent112
HP:0040084HP:0040084Abnormal circulating renin0CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism112
HP:0040084HP:0040084Abnormal circulating renin0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0040084HP:0040084Abnormal circulating renin0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0040084HP:0040084Abnormal circulating renin0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type IHP:0040281 - Very frequent73
HP:0040084HP:0040084Abnormal circulating renin0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0040084HP:0040084Abnormal circulating renin0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0040084HP:0040084Abnormal circulating renin0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0040084HP:0040084Abnormal circulating renin0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0040084HP:0040084Abnormal circulating renin0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0040084HP:0040084Abnormal circulating renin0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0040084HP:0040084Abnormal circulating renin0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0040084HP:0040084Abnormal circulating renin0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0040084HP:0040084Abnormal circulating renin0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0040084HP:0040084Abnormal circulating renin0KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0040084HP:0040084Abnormal circulating renin0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040280 - Obligate128
HP:0040084HP:0040084Abnormal circulating renin0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III128
HP:0040084HP:0040084Abnormal circulating renin0MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient6
HP:0040084HP:0040084Abnormal circulating renin0NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0040084HP:0040084Abnormal circulating renin0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant109
HP:0040084HP:0040084Abnormal circulating renin0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0040084HP:0040084Abnormal circulating renin0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0040084HP:0040084Abnormal circulating renin0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0040084HP:0040084Abnormal circulating renin0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0040084HP:0040084Abnormal circulating renin0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0040084HP:0040084Abnormal circulating renin0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0040084HP:0040084Abnormal circulating renin0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0040084HP:0003351Decreased circulating renin level1AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis.67
HP:0040084HP:0000848Increased circulating renin level1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent53
HP:0040084HP:0003351Decreased circulating renin level1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.51
HP:0040084HP:0000848Increased circulating renin level1CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1HP:0040283 - Occasional272
HP:0040084HP:0000848Increased circulating renin level1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent9
HP:0040084HP:0000848Increased circulating renin level1CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0040084HP:0000848Increased circulating renin level1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent27
HP:0040084HP:0000848Increased circulating renin level1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0040084HP:0000848Increased circulating renin level1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0040084HP:0003351Decreased circulating renin level1CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0040084HP:0003351Decreased circulating renin level1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040281 - Very frequent112
HP:0040084HP:0003351Decreased circulating renin level1CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism.112
HP:0040084HP:0000848Increased circulating renin level1CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0040084HP:0000848Increased circulating renin level1CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0040084HP:0000848Increased circulating renin level1CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency.73
HP:0040084HP:0003351Decreased circulating renin level1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0040084HP:0003351Decreased circulating renin level1HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040281 - Very frequent14
HP:0040084HP:0003351Decreased circulating renin level1HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0040084HP:0000848Increased circulating renin level1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0040084HP:0000848Increased circulating renin level1INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0040084HP:0000848Increased circulating renin level1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0040084HP:0000848Increased circulating renin level1KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0040084HP:0000848Increased circulating renin level1KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0040084HP:0000848Increased circulating renin level1KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0040084HP:0003351Decreased circulating renin level1KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III.128
HP:0040084HP:0000848Increased circulating renin level1MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient.6
HP:0040084HP:0003351Decreased circulating renin level1NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy.109
HP:0040084HP:0000848Increased circulating renin level1NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0040084HP:0000848Increased circulating renin level1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent67
HP:0040084HP:0000848Increased circulating renin level1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent61
HP:0040084HP:0003351Decreased circulating renin level1SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0040084HP:0000848Increased circulating renin level1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent57
HP:0040084HP:0003351Decreased circulating renin level1SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 2.57
HP:0040084HP:0000848Increased circulating renin level1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0040084HP:0000848Increased circulating renin level1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome.145


Genes (25) :AVPR2 BSND CACNA1D CASR CLCN2 CLCNKA CLCNKB CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 HSD3B2 INSR KCNJ1 KCNJ10 KCNJ16 KCNJ5 MAGED2 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3

Diseases (35) :OMIM:300539 ORPHA:89938 OMIM:615474 ORPHA:369929 OMIM:601198 ORPHA:404 OMIM:607364 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:403 OMIM:103900 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 ORPHA:320 OMIM:218030 ORPHA:90791 ORPHA:508 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:619406 ORPHA:251274 OMIM:613677 OMIM:300971 OMIM:605115 OMIM:177735 ORPHA:171876 OMIM:177200 OMIM:618114 OMIM:601678 OMIM:263800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.